Sakamoto Rieko, Nakamura Kimitoshi, Kido Jun, Matsumoto Shiro, Mitsubuchi Hiroshi, Inomata Yukihiro, Endo Fumio
Pediatrics, Kumamoto University, Kumamoto, Japan.
Neonatology, Kumamoto University Hospital, Kumamoto, Japan.
Pediatr Transplant. 2016 Dec;20(8):1081-1086. doi: 10.1111/petr.12804. Epub 2016 Sep 26.
Liver transplant is a treatment option for patients with MMA-emia. While this therapy does not bring about a complete cure, it is expected to prolong survival and improve the QOL of patients. The aim of this study was to evaluate the significance of LDLT for patients with MMA-emia in Japan. Clinical information on 13 patients with MMA-emia who underwent LDLT was acquired using a self-developed questionnaire sent to the doctors who provided medical care to patients with MMA-emia after LDLT. Almost all of the patients continued on a protein-restricted diet, and the number of acidosis attacks had significantly decreased. Physical growth had recovered to within the normal range by 2.5 years after LDLT, especially in patients who underwent LDLT before the age of 1 year. The average propionyl carnitine (C3) level had significantly decreased after LDLT, and the DQs had not worsened. Liver transplant should be performed for MMA-emia in early life. This can be expected to maintain neurological development and improve the growth and QOL of patients. However, LDLT is not a curative treatment for MMA-emia. A protein-restricted diet should be continued, and renal function should be monitored closely, with consideration of a renal transplant.
肝移植是甲基丙二酸血症患者的一种治疗选择。虽然这种疗法不能完全治愈，但有望延长患者的生存期并改善其生活质量。本研究的目的是评估活体肝移植对日本甲基丙二酸血症患者的意义。通过向为活体肝移植后甲基丙二酸血症患者提供医疗服务的医生发送自行编制的问卷，获取了13例接受活体肝移植的甲基丙二酸血症患者的临床信息。几乎所有患者都继续采用蛋白质限制饮食，酸中毒发作次数显著减少。活体肝移植后2.5年时体格生长恢复到正常范围，尤其是1岁前接受活体肝移植的患者。活体肝移植后丙酰肉碱（C3）平均水平显著降低，发育商未恶化。对于甲基丙二酸血症，应在早期进行肝移植。这有望维持神经发育并改善患者的生长和生活质量。然而，活体肝移植并非甲基丙二酸血症的根治性治疗方法。应继续采用蛋白质限制饮食，并密切监测肾功能，同时考虑进行肾移植。
